rs142172397
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs142172397(C;C) |
| Make rs142172397(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 101764932 |
| Gene | GNPTAB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs142172397 |
| dbSNP (classic) | rs142172397 |
| ClinGen | rs142172397 |
| ebi | rs142172397 |
| HLI | rs142172397 |
| Exac | rs142172397 |
| Gnomad | rs142172397 |
| Varsome | rs142172397 |
| LitVar | rs142172397 |
| Map | rs142172397 |
| PheGenI | rs142172397 |
| Biobank | rs142172397 |
| 1000 genomes | rs142172397 |
| hgdp | rs142172397 |
| ensembl | rs142172397 |
| geneview | rs142172397 |
| scholar | rs142172397 |
| rs142172397 | |
| pharmgkb | rs142172397 |
| gwascentral | rs142172397 |
| openSNP | rs142172397 |
| 23andMe | rs142172397 |
| SNPshot | rs142172397 |
| SNPdbe | rs142172397 |
| MSV3d | rs142172397 |
| GWAS Ctlg | rs142172397 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs142172397(A;A) rs142172397(C;C) |
| Alt | rs142172397(A;A) rs142172397(C;C) |
| Reference | Rs142172397(G;G) |
| Significance | Pathogenic |
| Disease | Pseudo-Hurler polydystrophy |
| Variation | info |
| Gene | GNPTAB |
| CLNDBN | Pseudo-Hurler polydystrophy |
| Reversed | 0 |
| HGVS | NC_000012.11:g.102158710G>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000031970.2, |
[PMID 16094673] Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype.
